Variant report

Variant	rs539190629
Chromosome Location	chr2:54952172-54952173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv3362527	chr2:54951248-54953146	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54949800-54952600	Active TSS	Psoas Muscle	Psoas
2	chr2:54949800-54952800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:54950000-54952200	Active TSS	Esophagus	oesophagus
4	chr2:54950000-54952200	Active TSS	Gastric	stomach
5	chr2:54950000-54952200	Active TSS	Left Ventricle	heart
6	chr2:54950000-54952200	Active TSS	Lung	lung
7	chr2:54950000-54952400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:54950000-54952400	Active TSS	Aorta	Aorta
9	chr2:54950000-54952600	Active TSS	Right Atrium	heart
10	chr2:54950000-54952600	Active TSS	Right Ventricle	heart
11	chr2:54950000-54953400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:54950200-54952200	Active TSS	Pancreas	Pancrea
13	chr2:54950200-54952200	Active TSS	Spleen	Spleen
14	chr2:54950200-54952400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:54950200-54952400	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr2:54950200-54952400	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr2:54950200-54952400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:54950200-54952400	Active TSS	Brain Anterior Caudate	brain
19	chr2:54950200-54952400	Active TSS	Ovary	ovary
20	chr2:54950200-54952400	Active TSS	NHDF-Ad	bronchial
21	chr2:54950200-54952600	Active TSS	Brain Hippocampus Middle	brain
22	chr2:54950200-54952600	Active TSS	Brain Substantia Nigra	brain
23	chr2:54950200-54952600	Active TSS	NHLF	lung
24	chr2:54950200-54953200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr2:54950200-54953400	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:54950200-54953600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:54950200-54954400	Active TSS	Brain Angular Gyrus	brain
28	chr2:54950400-54954000	Active TSS	Fetal Brain Female	brain
29	chr2:54950600-54952200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:54950800-54952800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:54950800-54953000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:54951000-54952200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:54951000-54952200	Flanking Active TSS	Liver	Liver
34	chr2:54951000-54952200	Flanking Active TSS	HUVEC	blood vessel
35	chr2:54951000-54952400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:54951000-54952400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
37	chr2:54951000-54952600	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:54951000-54952800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
39	chr2:54951000-54952800	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:54951000-54953000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
41	chr2:54951200-54952400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr2:54951200-54952400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:54951200-54952400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr2:54951200-54952400	Bivalent/Poised TSS	Fetal Kidney	kidney
45	chr2:54951200-54952400	Bivalent/Poised TSS	A549	lung
46	chr2:54951200-54952600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:54951200-54952600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
48	chr2:54951200-54952800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
49	chr2:54951400-54952200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:54951400-54952200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon

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